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nicotinic receptor delta; acetylcholine receptor subunit delta (CHRND, ACHRD)
Function:
- nicotinic receptor subunit (muscle)
- subunit of nicotinic receptor (muscle), a pentamer of two alpha chains, & one each of the beta, delta, & gamma (in immature muscle) or epsilon (in mature muscle) chains
Structure:
- belongs to the ligand-gated ionic channel (TC 1.A.9) family
Compartment:
- cell junction, synapse, postsynaptic cell membrane
Pathology:
- defects in CHRND are a cause of:
a) lethal type multiple pterygium syndrome
b) congenital myasthenic syndrome slow-channel type
c) congenital myasthenic syndrome fast-channel type
General
glycoprotein
ionotropic receptor subunit
phosphoprotein
transmembrane 4e protein
Properties
SIZE: entity length = 517 aa
MW = 59 kD
COMPARTMENT: plasma membrane
MOTIF: exoplasmic domain {22-245}
MOTIF: signal sequence {1-21}
N-glycosylation site {N97}
cysteine residue {C151}
MODIFICATION: cysteine residue {C165}
N-glycosylation site {N164}
cysteine residue {C165}
MODIFICATION: cysteine residue {C151}
transmembrane domain {246-270}
cytoplasmic loop {271-277}
transmembrane domain {278-299}
exoplasmic loop {300-311}
transmembrane domain {312-333}
cytoplasmic loop {334-471}
MOTIF: Tyr phosphorylation site {Y390}
transmembrane domain {472-490}
exoplasmic domain {491-517}
Database Correlations
OMIM correlations
MORBIDMAP 100720
UniProt Q07001
PFAM correlations
Entrez Gene 1144
Kegg hsa:1144
References
- UniProt :accession Q07001
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHRND
- Hemmings HC et al,
Role of protein phosphorylation in neuronal signal transduction
FASEB J 3:1583 1989
PMID: 2493406
Component-of
nicotinic receptor (nicotinic acetylcholine receptor, nAChR)